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    Genetic variant

    Genetic variants define a gene that has encountered a permanent change in its DNA sequence. Some, but not all, genetic variants result in a disease. Genetic variants can be inherited or can develop overtime.

    Webinars

    • APR 20, 2021 | 12:00 AM
      Application of Long-read Sequencing in Human Genetics
      Application of Long-read Sequencing in Human Genetics
      Recently, long-read sequencing with high accuracy has become a reality. Previous technologies allowed for the detection of particular classes of genetic variation and/or have focused on pre-...
      Speaker: Tychele Turner, Ph.D.
      Presented at: Genetics Week Virtual Event Series 2021
      Sponsored By: PacBio
      1
      APR 20, 2021 | 12:00 AM
      C.E. CREDITS
      Low error rate long-reads enable the identification of long variant haplotypes in metagenome assemblies
      Low error rate long-reads enable the identification of long variant...
      Microbial communities include distinct lineages of closely related organisms which have proved challenging to separate in metagenomic assembly. Challenges include the existence of highly rel...
      Speaker: Derek Bickhart, PhD
      Presented at: Genetics Week Virtual Event Series 2021
      2
      APR 14, 2021 | 4:30 PM
      How RT-PCR Testing Allows Labcorp to Perform National SARS-CoV-2 Pandemic Surveillance
      How RT-PCR Testing Allows Labcorp to Perform National SARS-CoV-2...
      When SARS-CoV-2 reached the United States in late January 2020, Labcorp immediately began development of an RT-PCR test to aid in detection and diagnosis of COVID-19 in infected patients. As...
      Speaker: Brian Krueger, PhD
      Presented at: Coronavirus Series
      Sponsored By: PacBio
      24
      APR 14, 2021 | 1:30 PM
      Automated Solutions for SARS-CoV-2 Variant Identification and Surveillance
      Automated Solutions for SARS-CoV-2 Variant Identification and...
      Several SARS-CoV-2 variants are circulating globally. The most prominent variants of concern, including the B.1.1.7, B.1.351 and B1.1.28 lineages, not only carry a constellation of genetic m...
      Speaker: Anthony Tong, PhD , Subodh Nimkar
      Presented at: Coronavirus Series
      Sponsored By: BGI Americas
      3
      APR 14, 2021 | 1:30 PM
      Molecular Testing for the Detection and Strain Identification of SARS-CoV-2
      Molecular Testing for the Detection and Strain Identification...
      This presentation will focus on strategies for the design and validation of robust assays for the detection of SARS-CoV-2, including nucleic acid extraction, multiplexed qPCR assays, and int...
      Speaker: Manohar R. Furtado, PhD
      Presented at: Coronavirus Series
      Sponsored By: Thermo Fisher Scientific
      15
      APR 14, 2021 | 12:00 PM
      Solutions for SARS-CoV-2 Strain Lineage Surveillance
      Solutions for SARS-CoV-2 Strain Lineage Surveillance
      The COVID19 pandemic continues to be a major epidemiological challenge across the globe. Part of the challenge, often seen with viruses, is that the nucleic acid genome quickly mutates, prod...
      Speaker: Stephen Jackson
      Presented at: Coronavirus Series
      Sponsored By: Thermo Fisher Scientific
      3
      APR 14, 2021 | 12:00 AM
      Is SNP Genotyping a Better Approach for Monitoring for Known Variants of Concern
      Is SNP Genotyping a Better Approach for Monitoring for Known Variants...
      At UC Davis we have implemented rapid, inexpensive, high throughput testing for SARS-Cov-2 using technology repurposed from the agricultural biotechnology sector. As part of Healthy Davis To...
      Speaker: Richard Michelmore
      Presented at: Coronavirus Series
      2
      MAR 22, 2021 | 8:00 AM
      Impact of Global Surveillance on Diagnostic Tools
      Impact of Global Surveillance on Diagnostic Tools
      Date: March 22, 2021 Time: 8:00am PDT, 11:00am EDT Viral diversity presents an ongoing challenge for diagnostic tests, which must be designed to accurately detect all current and future circ...
      Speaker: Dr. Gavin Cloherty
      Sponsored By: Scientific Affairs, Molecular Diagnostics at Abbott
      4 1
      FEB 24, 2021 | 12:00 AM
      The Comprehensive A.I.-Driven Genomic Landscape for ALS - Implications for Drug Discovery and Development
      The Comprehensive A.I.-Driven Genomic Landscape for ALS - Implications...
      Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease affecting approximately 1 in 50,000 people worldwide. About 10% of these cases are found to have a hereditary component, bu...
      Speaker: Mark Kiel, MD, PhD
      Presented at: Drug Discovery & Development Virtual Event Series 2021
      2
      JAN 28, 2021 | 7:00 AM
      Utilization of Optical Genome Mapping in Detection and Characterization of Rare Genetic Markers in Pediatric Leukemias
      Utilization of Optical Genome Mapping in Detection and Characterization...
      Date: January 28, 2021 Time: 7:00am (PST), 10:00am (EST) Many of the newly recognized clinically significant genetic markers in pediatric leukemias cannot be reliably detected by routine dia...
      Speaker: Gordana Raca, MD, PhD, FACMG
      Sponsored By: Bionano
      10
      NOV 12, 2020 | 3:00 PM
      Translating insights into better outcomes: The new QIAseq Human Exome integrated solution
      Translating insights into better outcomes: The new QIAseq Human...
      What if your lab could perform exome sequencing with the same sensitivity and efficiency of targeted sequencing? The new integrated QIAseq Human Exome TR Insights solution from QIAGEN delive...
      Speaker: Brian Dugan, M.S. , Rupert Yip, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2020
      Sponsored By: QIAGEN
      1
      NOV 05, 2020 | 12:00 AM
      The importance of educating patients and their physicians on opioid use: lessons learned from medical cases
      The importance of educating patients and their physicians on opioid...
      Urine drug testing has become an essential part of the management of patients with chronic pain. Testing provides objective information regarding drug compliance, diversion, and abuse to med...
      Speaker: Alan H.B. Wu, PhD, DABACC
      Presented at: Opioid Crisis Virtual Event Series 2020
      1
      OCT 22, 2020 | 1:15 PM
      Utilizing the Genexus System to Detect Complex Genetic Variants in Human Tissue Specimens
      Utilizing the Genexus System to Detect Complex Genetic Variants...
      To identify genetic variants in archival human samples, researchers need a powerful NGS platform that can accommodate input DNA and RNA that is often low quality and/or low quantity. This ch...
      Speaker: Craig Mackinnon, MD, PhD
      Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
      0
      OCT 22, 2020 | 6:05 AM
      NGS for precision oncology in solid tumors: from research to clinical practice
      NGS for precision oncology in solid tumors: from research to clinical...
      Precision oncology is revolutionizing the diagnostic and therapeutic approach to cancer. In fact, the availability of tumor-specific and tumor-agnostic biomarkers and matched therapies is ra...
      Speaker: Nicola Normanno, MD
      Presented at: OncomineWorld Autumn: A virtual NGS education meeting
      1
      OCT 22, 2020 | 6:05 AM
      NGS for precision oncology in solid tumors: from research to clinical practice
      NGS for precision oncology in solid tumors: from research to clinical...
      Precision oncology is revolutionizing the diagnostic and therapeutic approach to cancer. In fact, the availability of tumor-specific and tumor-agnostic biomarkers and matched therapies is ra...
      Speaker: Nicola Normanno, MD
      Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
      0
      OCT 08, 2020 | 3:00 PM
      Reducing biological variance in tumor-antigen expression to standardize potency testing for immunotherapies
      Reducing biological variance in tumor-antigen expression to standardize...
      The continued rapid expansion of immunotherapies, including both in vivo and ex vivo therapeutics, has driven the development and adoption of novel tools to study, asses and understand these...
      Speaker: Benjamin Borgo, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2020
      Sponsored By: MilliporeSigma
      1
      OCT 08, 2020 | 9:00 AM
      Blood-based detection of EGFR and KRAS mutations for NSCLC patients using multiplexed droplet digital PCR
      Blood-based detection of EGFR and KRAS mutations for NSCLC patients...
      Mutations in the epidermal growth factor receptor gene (EGFR) and the known Kirsten rat sarcoma viral oncogene (KRAS) are significant drivers in the development of non-small-cell lung cancer...
      Speaker: Hestia Mellert, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2020
      Sponsored By: Bio-Rad Laboratories
      2
      OCT 08, 2020 | 7:30 AM
      Keynote Presentation: RNA Splicing and Ancestry-related Molecular Targets in Precision Oncology and Cancer Disparities
      Keynote Presentation: RNA Splicing and Ancestry-related Molecular...
      Individuals of under-represented minority ancestry are at disproportional risk for higher incidence and mortality rates for particular cancers. The unequal burden of cancer in certain racial...
      Speaker: Steven R. Patierno, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2020
      4
      OCT 08, 2020 | 12:00 AM
      The biology of cancer disparities: an innate immunity story
      The biology of cancer disparities: an innate immunity story
      Cancer disparities among persons of African descent are driven by both biological and nonbiological factors. There is evidence in breast cancer that psychosocial factors (environment, socioe...
      Speaker: K. Sean Kimbro, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2020
      1
      SEP 30, 2020 | 6:00 AM
      Enhancing efficiency and specificity with improved CRISPR components and a new CRISPR analysis pipeline
      Enhancing efficiency and specificity with improved CRISPR components...
      Genome editing with an expanded CRISPR-Cas tool set increases the opportunity to make intentional, targeted changes in the genome. Furthermore, improved specificity of genome editing and abi...
      Speaker: Ashley Jacobi
      Presented at: CRISPR Virtual Event Series 2020
      Sponsored By: IDT
      2
      SEP 17, 2020 | 12:00 AM
      The detection, characterization, and surveillance of the SARS-CoV-2 viral genome using hybridization capture-based NGS assay
      The detection, characterization, and surveillance of the SARS-CoV-2...
      As the spread of infectious diseases, current pandemic, and growing antimicrobial resistance (AMR) continues globally, next-generation sequencing (NGS) became a tool to diagnose infectious d...
      Speaker: Dorottya Nagy-Szakal, MD PhD
      Presented at: Coronavirus Series
      1
      SEP 09, 2020 | 12:00 AM
      Leveraging SMRT sequencing to resolve complex immune loci
      Leveraging SMRT sequencing to resolve complex immune loci
      The regions of our genome responsible for encoding the genes that regulate our immune response are some of the most complex and polymorphic known. This complexity encompasses multiple types...
      Speaker: Melissa L. Smith, PhD
      Presented at: Microbiology Week Virtual Event Series 2020
      1
      SEP 08, 2020 | 9:00 AM
      Keynote Presentation: A Universal Influenza Virus Vaccine
      Keynote Presentation: A Universal Influenza Virus Vaccine
      Seasonal and pandemic influenza virus infections can cause significant disease worldwide. Current vaccines only provide limited, short-lived protection, and antigenic drift/shift in the hema...
      Speaker: Peter Palese, PhD
      Presented at: Microbiology Week Virtual Event Series 2020
      3
      AUG 20, 2020 | 10:00 AM
      A Novel Method for the Isolation of Highly Pure Carcinoma Cell Populations from FFPE Tissue Improves Sensitivity for Detecting Somatic Mutations
      A Novel Method for the Isolation of Highly Pure Carcinoma Cell...
      DATE: August 20, 2020 TIME: 10:00am PT, 1:00pm ET Millions of formalin-fixed paraffin-embedded (FFPE) tissue specimens are archived annually. The enormous number of FFPE specimens available...
      Speaker: Carina Emery
      Sponsored By: Miltenyi Biotec
      21 1
    APR 20, 2021 | 12:00 AM
    Application of Long-read Sequencing in Human Genetics
    Application of Long-read Sequencing in Human Genetics
    Recently, long-read sequencing with high accuracy has become a reality. Previous technologies allowed for the detection of particular classes of genetic variation and/or have focused on pre-...
    Speaker: Tychele Turner, Ph.D.
    Presented at: Genetics Week Virtual Event Series 2021
    Sponsored By: PacBio
    1
    APR 20, 2021 | 12:00 AM
    C.E. CREDITS
    Low error rate long-reads enable the identification of long variant haplotypes in metagenome assemblies
    Low error rate long-reads enable the identification of long variant...
    Microbial communities include distinct lineages of closely related organisms which have proved challenging to separate in metagenomic assembly. Challenges include the existence of highly rel...
    Speaker: Derek Bickhart, PhD
    Presented at: Genetics Week Virtual Event Series 2021
    2
    APR 14, 2021 | 4:30 PM
    How RT-PCR Testing Allows Labcorp to Perform National SARS-CoV-2 Pandemic Surveillance
    How RT-PCR Testing Allows Labcorp to Perform National SARS-CoV-2...
    When SARS-CoV-2 reached the United States in late January 2020, Labcorp immediately began development of an RT-PCR test to aid in detection and diagnosis of COVID-19 in infected patients. As...
    Speaker: Brian Krueger, PhD
    Presented at: Coronavirus Series
    Sponsored By: PacBio
    24
    APR 14, 2021 | 1:30 PM
    Automated Solutions for SARS-CoV-2 Variant Identification and Surveillance
    Automated Solutions for SARS-CoV-2 Variant Identification and...
    Several SARS-CoV-2 variants are circulating globally. The most prominent variants of concern, including the B.1.1.7, B.1.351 and B1.1.28 lineages, not only carry a constellation of genetic m...
    Speaker: Anthony Tong, PhD , Subodh Nimkar
    Presented at: Coronavirus Series
    Sponsored By: BGI Americas
    3
    APR 14, 2021 | 1:30 PM
    Molecular Testing for the Detection and Strain Identification of SARS-CoV-2
    Molecular Testing for the Detection and Strain Identification...
    This presentation will focus on strategies for the design and validation of robust assays for the detection of SARS-CoV-2, including nucleic acid extraction, multiplexed qPCR assays, and int...
    Speaker: Manohar R. Furtado, PhD
    Presented at: Coronavirus Series
    Sponsored By: Thermo Fisher Scientific
    15
     
     
  • APR 14, 2021 | 12:00 PM
    Solutions for SARS-CoV-2 Strain Lineage Surveillance
    Solutions for SARS-CoV-2 Strain Lineage Surveillance
    The COVID19 pandemic continues to be a major epidemiological challenge across the globe. Part of the challenge, often seen with viruses, is that the nucleic acid genome quickly mutates, prod...
    Speaker: Stephen Jackson
    Presented at: Coronavirus Series
    Sponsored By: Thermo Fisher Scientific
    3
    APR 14, 2021 | 12:00 AM
    Is SNP Genotyping a Better Approach for Monitoring for Known Variants of Concern
    Is SNP Genotyping a Better Approach for Monitoring for Known Variants...
    At UC Davis we have implemented rapid, inexpensive, high throughput testing for SARS-Cov-2 using technology repurposed from the agricultural biotechnology sector. As part of Healthy Davis To...
    Speaker: Richard Michelmore
    Presented at: Coronavirus Series
    2
    MAR 22, 2021 | 8:00 AM
    Impact of Global Surveillance on Diagnostic Tools
    Impact of Global Surveillance on Diagnostic Tools
    Date: March 22, 2021 Time: 8:00am PDT, 11:00am EDT Viral diversity presents an ongoing challenge for diagnostic tests, which must be designed to accurately detect all current and future circ...
    Speaker: Dr. Gavin Cloherty
    Sponsored By: Scientific Affairs, Molecular Diagnostics at Abbott
    4 1
    FEB 24, 2021 | 12:00 AM
    The Comprehensive A.I.-Driven Genomic Landscape for ALS - Implications for Drug Discovery and Development
    The Comprehensive A.I.-Driven Genomic Landscape for ALS - Implications...
    Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease affecting approximately 1 in 50,000 people worldwide. About 10% of these cases are found to have a hereditary component, bu...
    Speaker: Mark Kiel, MD, PhD
    Presented at: Drug Discovery & Development Virtual Event Series 2021
    2
    JAN 28, 2021 | 7:00 AM
    Utilization of Optical Genome Mapping in Detection and Characterization of Rare Genetic Markers in Pediatric Leukemias
    Utilization of Optical Genome Mapping in Detection and Characterization...
    Date: January 28, 2021 Time: 7:00am (PST), 10:00am (EST) Many of the newly recognized clinically significant genetic markers in pediatric leukemias cannot be reliably detected by routine dia...
    Speaker: Gordana Raca, MD, PhD, FACMG
    Sponsored By: Bionano
    10
     
     
  • NOV 12, 2020 | 3:00 PM
    Translating insights into better outcomes: The new QIAseq Human Exome integrated solution
    Translating insights into better outcomes: The new QIAseq Human...
    What if your lab could perform exome sequencing with the same sensitivity and efficiency of targeted sequencing? The new integrated QIAseq Human Exome TR Insights solution from QIAGEN delive...
    Speaker: Brian Dugan, M.S. , Rupert Yip, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2020
    Sponsored By: QIAGEN
    1
    NOV 05, 2020 | 12:00 AM
    The importance of educating patients and their physicians on opioid use: lessons learned from medical cases
    The importance of educating patients and their physicians on opioid...
    Urine drug testing has become an essential part of the management of patients with chronic pain. Testing provides objective information regarding drug compliance, diversion, and abuse to med...
    Speaker: Alan H.B. Wu, PhD, DABACC
    Presented at: Opioid Crisis Virtual Event Series 2020
    1
    OCT 22, 2020 | 1:15 PM
    Utilizing the Genexus System to Detect Complex Genetic Variants in Human Tissue Specimens
    Utilizing the Genexus System to Detect Complex Genetic Variants...
    To identify genetic variants in archival human samples, researchers need a powerful NGS platform that can accommodate input DNA and RNA that is often low quality and/or low quantity. This ch...
    Speaker: Craig Mackinnon, MD, PhD
    Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
    0
    OCT 22, 2020 | 6:05 AM
    NGS for precision oncology in solid tumors: from research to clinical practice
    NGS for precision oncology in solid tumors: from research to clinical...
    Precision oncology is revolutionizing the diagnostic and therapeutic approach to cancer. In fact, the availability of tumor-specific and tumor-agnostic biomarkers and matched therapies is ra...
    Speaker: Nicola Normanno, MD
    Presented at: OncomineWorld Autumn: A virtual NGS education meeting
    1
    OCT 22, 2020 | 6:05 AM
    NGS for precision oncology in solid tumors: from research to clinical practice
    NGS for precision oncology in solid tumors: from research to clinical...
    Precision oncology is revolutionizing the diagnostic and therapeutic approach to cancer. In fact, the availability of tumor-specific and tumor-agnostic biomarkers and matched therapies is ra...
    Speaker: Nicola Normanno, MD
    Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
    0
     
     
  • OCT 08, 2020 | 3:00 PM
    Reducing biological variance in tumor-antigen expression to standardize potency testing for immunotherapies
    Reducing biological variance in tumor-antigen expression to standardize...
    The continued rapid expansion of immunotherapies, including both in vivo and ex vivo therapeutics, has driven the development and adoption of novel tools to study, asses and understand these...
    Speaker: Benjamin Borgo, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2020
    Sponsored By: MilliporeSigma
    1
    OCT 08, 2020 | 9:00 AM
    Blood-based detection of EGFR and KRAS mutations for NSCLC patients using multiplexed droplet digital PCR
    Blood-based detection of EGFR and KRAS mutations for NSCLC patients...
    Mutations in the epidermal growth factor receptor gene (EGFR) and the known Kirsten rat sarcoma viral oncogene (KRAS) are significant drivers in the development of non-small-cell lung cancer...
    Speaker: Hestia Mellert, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2020
    Sponsored By: Bio-Rad Laboratories
    2
    OCT 08, 2020 | 7:30 AM
    Keynote Presentation: RNA Splicing and Ancestry-related Molecular Targets in Precision Oncology and Cancer Disparities
    Keynote Presentation: RNA Splicing and Ancestry-related Molecular...
    Individuals of under-represented minority ancestry are at disproportional risk for higher incidence and mortality rates for particular cancers. The unequal burden of cancer in certain racial...
    Speaker: Steven R. Patierno, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2020
    4
    OCT 08, 2020 | 12:00 AM
    The biology of cancer disparities: an innate immunity story
    The biology of cancer disparities: an innate immunity story
    Cancer disparities among persons of African descent are driven by both biological and nonbiological factors. There is evidence in breast cancer that psychosocial factors (environment, socioe...
    Speaker: K. Sean Kimbro, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2020
    1
    SEP 30, 2020 | 6:00 AM
    Enhancing efficiency and specificity with improved CRISPR components and a new CRISPR analysis pipeline
    Enhancing efficiency and specificity with improved CRISPR components...
    Genome editing with an expanded CRISPR-Cas tool set increases the opportunity to make intentional, targeted changes in the genome. Furthermore, improved specificity of genome editing and abi...
    Speaker: Ashley Jacobi
    Presented at: CRISPR Virtual Event Series 2020
    Sponsored By: IDT
    2
     
     
  • SEP 17, 2020 | 12:00 AM
    The detection, characterization, and surveillance of the SARS-CoV-2 viral genome using hybridization capture-based NGS assay
    The detection, characterization, and surveillance of the SARS-CoV-2...
    As the spread of infectious diseases, current pandemic, and growing antimicrobial resistance (AMR) continues globally, next-generation sequencing (NGS) became a tool to diagnose infectious d...
    Speaker: Dorottya Nagy-Szakal, MD PhD
    Presented at: Coronavirus Series
    1
    SEP 09, 2020 | 12:00 AM
    Leveraging SMRT sequencing to resolve complex immune loci
    Leveraging SMRT sequencing to resolve complex immune loci
    The regions of our genome responsible for encoding the genes that regulate our immune response are some of the most complex and polymorphic known. This complexity encompasses multiple types...
    Speaker: Melissa L. Smith, PhD
    Presented at: Microbiology Week Virtual Event Series 2020
    1
    SEP 08, 2020 | 9:00 AM
    Keynote Presentation: A Universal Influenza Virus Vaccine
    Keynote Presentation: A Universal Influenza Virus Vaccine
    Seasonal and pandemic influenza virus infections can cause significant disease worldwide. Current vaccines only provide limited, short-lived protection, and antigenic drift/shift in the hema...
    Speaker: Peter Palese, PhD
    Presented at: Microbiology Week Virtual Event Series 2020
    3
    AUG 20, 2020 | 10:00 AM
    A Novel Method for the Isolation of Highly Pure Carcinoma Cell Populations from FFPE Tissue Improves Sensitivity for Detecting Somatic Mutations
    A Novel Method for the Isolation of Highly Pure Carcinoma Cell...
    DATE: August 20, 2020 TIME: 10:00am PT, 1:00pm ET Millions of formalin-fixed paraffin-embedded (FFPE) tissue specimens are archived annually. The enormous number of FFPE specimens available...
    Speaker: Carina Emery
    Sponsored By: Miltenyi Biotec
    21 1
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